Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727504421
rs727504421
0.882 0.160 3 30691465 missense variant G/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs876658120
rs876658120
1.000 0.160 3 30691437 inframe deletion ACGTTGACTGAG/- delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs11466512
rs11466512
1.000 0.160 3 30671634 splice region variant T/A;C snv 0.30
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2276767
rs2276767
1.000 0.160 3 30691329 intron variant C/A snv 0.23
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018